Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line

Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line

A typical DYT1 dystonia is caused by a heterozygous GAG deletion (c.907–909) in the TOR1A gene (ΔE, p.Glu303del) and the pathogenesis is not clear. In this study, human induced pluripotent stem cell (hiPSC) lines carrying the heterozygous or homozygous GAG deletion in TOR1A gene were generated by ge...

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Main Authors: Masuma Akter, Haochen Cui, Yi-Hsien Chen, Baojin Ding
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121003834
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spelling doaj-4bacd8f5dfcc402ba1dbcbcb608ca8df2021-09-17T04:34:48ZengElsevierStem Cell Research1873-50612021-10-0156102536Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC lineMasuma Akter0Haochen Cui1Yi-Hsien Chen2Baojin Ding3Department of Biology, University of Louisiana at Lafayette, 410 East Saint Mary Boulevard, Lafayette LA 70503, USADepartment of Biology, University of Louisiana at Lafayette, 410 East Saint Mary Boulevard, Lafayette LA 70503, USAGenome Engineering and iPSC Center (GEiC), Washington University at St Louis, MO 63110, USADepartment of Biology, University of Louisiana at Lafayette, 410 East Saint Mary Boulevard, Lafayette LA 70503, USA; Corresponding author.A typical DYT1 dystonia is caused by a heterozygous GAG deletion (c.907–909) in the TOR1A gene (ΔE, p.Glu303del) and the pathogenesis is not clear. In this study, human induced pluripotent stem cell (hiPSC) lines carrying the heterozygous or homozygous GAG deletion in TOR1A gene were generated by genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). These hiPSC lines showed the normal stem cell morphology and karyotype, expressed the same pluripotency markers as their parental line, and had the capacity to differentiate into three germ layers, providing a valuable resource in determining the pathogenesis of human DYT1 dystonia.http://www.sciencedirect.com/science/article/pii/S1873506121003834
collection DOAJ
language English
format Article
sources DOAJ
author Masuma Akter
Haochen Cui
Yi-Hsien Chen
Baojin Ding
spellingShingle Masuma Akter
Haochen Cui
Yi-Hsien Chen
Baojin Ding
Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
Stem Cell Research
author_facet Masuma Akter
Haochen Cui
Yi-Hsien Chen
Baojin Ding
author_sort Masuma Akter
title Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_short Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_full Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_fullStr Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_full_unstemmed Generation of two induced pluripotent stem cell lines with heterozygous and homozygous GAG deletion in TOR1A gene from a healthy hiPSC line
title_sort generation of two induced pluripotent stem cell lines with heterozygous and homozygous gag deletion in tor1a gene from a healthy hipsc line
publisher Elsevier
series Stem Cell Research
issn 1873-5061
publishDate 2021-10-01
description A typical DYT1 dystonia is caused by a heterozygous GAG deletion (c.907–909) in the TOR1A gene (ΔE, p.Glu303del) and the pathogenesis is not clear. In this study, human induced pluripotent stem cell (hiPSC) lines carrying the heterozygous or homozygous GAG deletion in TOR1A gene were generated by genetic modification of a healthy hiPSC line (WTC11, UCSFi001-A). These hiPSC lines showed the normal stem cell morphology and karyotype, expressed the same pluripotency markers as their parental line, and had the capacity to differentiate into three germ layers, providing a valuable resource in determining the pathogenesis of human DYT1 dystonia.
url http://www.sciencedirect.com/science/article/pii/S1873506121003834
work_keys_str_mv AT masumaakter generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
AT haochencui generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
AT yihsienchen generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
AT baojinding generationoftwoinducedpluripotentstemcelllineswithheterozygousandhomozygousgagdeletionintor1agenefromahealthyhipscline
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